ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058004
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000037195
RCV000157091
RCV000211885
RCV001852771
ClinVar Variation:
44217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307784.1:p.Ala140Val
CA006924
NM_001320855.1:c.419C>T